戊二酸血症Ⅰ型1例报告并文献复习

One case report and literature review of glutaric academia type Ⅰ

为探讨戊二酸血症Ⅰ型的临床特征、实验室检查及治疗,本文回顾性分析1例临床诊断为GA1患儿的临床资料,并结合文献资料进行分析。该例患儿以精神运动发育迟滞、锥体外系症状、头大畸形为突出表现。采用串联质谱法查血氨基酸检测结果提示戊二酸肉碱显著增高,伴游离肉碱减低,提示GA1;采用气相色谱-质谱联用法查尿有机酸检测结果提示戊二酸显著增高。治疗上予补充维生素B2、左旋肉碱、巴氯芬缓解肌张力、限制蛋白饮食(限制赖氨酸、色氨酸摄入)等治疗后,症状明显缓解。某些临床表现,如精神运动发育迟滞、锥体外系症状、头大畸形等,对GA1的早期发现与诊断有指导价值。应用气相色谱-质谱联用分析和串联质谱分析技术进行遗传代谢性疾病的筛查,有助于遗传代谢性疾病的早期明确诊断。急性期的治疗以对症支持及促进毒性代谢产物的排出为主,慢性期的治疗主要是限制蛋白饮食。

To investigate the clinical features,laboratory examination and treatment of glutaric academia type Ⅰ,the clinical data of 1 clinically-diagnosed GA1 child were analyzed retrospectively and in combination of literatures in this paper.The child was characterized by psychomotor retardation,extrapyramidal symptoms and head deformity.The test results of blood amino acid was detected by tandem mass spectrometry showed glutaric acid carnitine significantly increased and was accompanied with decreased free carnitine,suggested the existence of GA1;the test results of urinary organic acid was detected by gas chromatography-mass spectrometry showed glutaric acid significantly increased.The child was treated with supplement of Vitamin B2,L-carnitine,Baclofen for muscle tension relief and limitation of protein diet（limited intake of lysine and tryptophan）.The symptoms were relieved after treatment.Some clinical manifestations,such as psychomotor retardation,extrapyramidal symptoms and head deformities,may be of guiding effectiveness for the early detection and early diagnosis of GA1.Application of gas chromatography-mass spectrometry and tandem mass spectrometry for screening of genetic metabolic diseases is helpful for the early diagnosis of inherited metabolic diseases.The treatment at the acute stage is mainly focused on symptomatic support and promotion of the excretion of toxic metabolites.The treatment at the chronic stage is mainly focused on the restricted protein diet.